ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)

dbSNP: rs368269464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689472 SCV000817125 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473108 SCV002771091 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002473108 SCV003799800 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing The SETX c.7660T>C, p.Phe2554Leu variant (rs368269464), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 568960). This variant is only observed on three alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The phenylalanine at codon 2554 is weakly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.244). Due to limited information, the clinical significance of this variant is uncertain at this time.

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